Cancer Risk Counseling Research Articles

Abstract C125: Improving access to genetic counseling and testing for underserved populations through telehealth

Abstract Introduction: A lack of access to genetic counseling for hereditary cancer risk in rural and underserved areas is well-documented and can exacerbate disparities in cancer risk reduction and early detection. Telehealth has the potential to bridge this gap, providing remote access to specialized care. The COVID-19 pandemic accelerated telehealth availability, allowing estimation of the causal effects of shifting to a model of virtual care delivery for genetic counseling services. Methods: The Stanford Cancer Genetic Counseling Clinic provided solely in-person care at two clinical sites (Palo Alto and San Jose, CA) until March 2020, and solely virtual care from April 2020 onward. We performed a regression discontinuity design, allowing outcomes comparison before and after the threshold of early 2020, to evaluate the impact of telehealth genetic counseling on access to care for patients living in areas of higher deprivation. The assignment variable (the exposure measured before versus after the threshold) was the three-month period during which the patients were seen, with the March-May 2020 quarter excluded because of disruption of care during the early COVID-19 pandemic. The primary endpoint was proportion of patients whose primary residence zip code had a state area deprivation index of at least 4. Secondary endpoints included driving distance to the primary clinic location in Palo Alto, CA, insurance type, race/ethnicity, and primary language. Results: The study included N=5,957 patients seen in the Stanford Cancer Genetics Program between January 2017 and February 2020, and N=9,469 patients seen between June 2020 and April 2024. The regression discontinuity analysis revealed a significant discontinuity at the threshold for telehealth in access for patients living in areas of higher deprivation, who accounted for 22% of patients seen just prior to telehealth implementation and 27% just after telehealth implementation, a proportional increase of 21% (p=0.006). Mean driving distance to Palo Alto, CA also increased, from 49 minutes just prior to the threshold to 56 minutes just after (p=0.003). There were no significant differences in insurance type, race/ethnicity, or primary language across the threshold. Conclusion: The implementation of telehealth services at the Stanford Cancer Genetic Counseling Clinic significantly improved access to genetic counseling for patients from areas with higher deprivation, as evidenced by a 21% increase in the proportion of such patients among those seen. These results quantify the effectiveness of telehealth in reducing geographical and socioeconomic barriers to specialized genetic counseling and testing services. Citation Format: Jennifer L. Caswell-Jin, Hao Tang, Mina Satoyoshi, Kerry Kingham, Allison W. Kurian. Improving access to genetic counseling and testing for underserved populations through telehealth [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr C125.

Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.

As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity, research on how well the elements of informed consent are implemented in practice is lacking. This retrospective and prospective mixed-methods study assessed how adequately the elements of informed consent are addressed during pre-test GCRA among 307 community clinicians (CC) and 129 cancer genetic counselors (GC), and barriers they face to addressing these elements. Results revealed that more than 90% of both cohorts consistently addressed components of at least 5 of the 10 elements of informed consent during a pre-test consultation. Technical aspects and accuracy of the test and utilization of test results were the most similarly addressed elements. Notably, GCs more often review the purpose of the test and who to test, general information about the gene(s), and economic considerations whereas CCs more often review alternatives to testing. Both cohorts reported psychosocial aspects of the informed consent process as the least adequately addressed element. Time constraints and patient-related concerns were most often cited by both cohorts as barriers to optimal facilitation of informed consent. Additional barriers reported by CCs included provider lack of awareness, experience, or education, and availability of resources and institutional support. Findings from this study may contribute to the development of alternative delivery models that incorporate supplementary educational tools to enhance patient understanding about the utility of genetic testing, while helping to mitigate the barrier of time constraints. Equally important is the use of this information to develop continuing education tools for providers.

Chatbot Artificial Intelligence for Genetic Cancer Risk Assessment and Counseling: A Systematic Review and Meta-Analysis.

Most individuals with a hereditary cancer syndrome are unaware of their genetic status to underutilization of hereditary cancer risk assessment. Chatbots, or programs that use artificial intelligence to simulate conversation, have emerged as a promising tool in health care and, more recently, as a potential tool for genetic cancer risk assessment and counseling. Here, we evaluated the existing literature on the use of chatbots in genetic cancer risk assessment and counseling. A systematic review was conducted using key electronic databases to identify studies which use chatbots for genetic cancer risk assessment and counseling. Eligible studies were further subjected to meta-analysis. Seven studies met inclusion criteria, evaluating five distinct chatbots. Three studies evaluated a chatbot that could perform genetic cancer risk assessment, one study evaluated a chatbot that offered patient counseling, and three studies included both functions. The pooled estimated completion rate for the genetic cancer risk assessment was 36.7% (95% CI, 14.8 to 65.9). Two studies included comprehensive patient characteristics, and none involved a comparison group. Chatbots varied as to the involvement of a health care provider in the process of risk assessment and counseling. Chatbots have been used to streamline genetic cancer risk assessment and counseling and hold promise for reducing barriers to genetic services. Data regarding user and nonuser characteristics are lacking, as are data regarding comparative effectiveness to usual care. Future research may consider the impact of chatbots on equitable access to genetic services.

Spectrum of germline pathogenic variants among patients with cancer in Mexico.

10620 Background: Up to 10% of patients with cancer harbor pathogenic germline variants (PVs) in one or more cancer susceptibility genes. Genetic cancer risk assessment (GCRA) is an important tool for the management of patients with cancer. It allows the identification of candidates for structured screening protocols, risk reduction strategies, targeted therapies and cascade testing. Knowledge about the prevalence and spectrum of PVs is limited among underrepresented populations. We studied the prevalence of germline PVs in a cohort of Mexican patients with cancer. Methods: Between April 2017 and September 2022, patients with diagnosis of cancer who met clinical criteria for GCRA according to international guidelines (NCCN) and were enrolled in the international Clinical Cancer Genomics Community Research Network (CCGCRN) registry at Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran were included. Cancer risk counseling and germline multi-gene panel testing were performed. Post-test counseling and cascade testing with known PV analysis was offered. Results: 1322 patients met inclusion criteria (probands n = 1027, relatives n = 295). Among the probands, 72.4% (744/1027) were women, median age at cancer diagnosis was 48.2 years (range 1-88) and 9.8% (n = 101) had more than one primary tumor. 14.5% (149/1027) of probands had a positive result in which 152 PV were identified ( BRCA1 n = 39, BRCA2 n = 33, ATM n = 11, CHEK2 n = 11, MLH1 n = 11, TP53 n = 7, PALB2 n = 7, NF1 n = 6, MSH2 n = 5, MSH6 n = 3, PTEN n = 3, APC n = 2, BRIP1 n = 2, CDH1 n = 2, RB1 n = 2 and 1 PV in the genes: CDKN2A, MAX, MUTYH, NBN, PTCH1, RAD50, SDHA and SDHB). The frequency of PV according to cancer diagnosis was: breast 15.5% (82/527), prostate 2% (4/198), ovarian 15.6% (12/77), colorectal 26.6% (16/60) and pancreatic 11.9% (5/42). The frequency of recurrent, potentially founder PVs in their respective genes was as follows: BRCA1 del(exons9-12) 30.7% (12/39) and CHEK2 c.707T > C 81.8% (9/11). Among the relatives referred for cascade testing the frequency of PV was 40% (118/295), 18.6% (55/295) had personal history of cancer with a median age at diagnosis of 47 years. Conclusions: Our results show a wide spectrum and a variable frequency of PVs among one of the largest examined cohorts of Mexican patients with cancer, with a high frequency of PVs among cases of breast, ovarian, and colorectal cancer. In contrast to reports from other populations, there was very low frequency of PVs among patients with prostate cancer. The outcomes of this study add to our understanding of the genetic epidemiology of cancer in the Mexican population, and support creating GCRA programs to improve access to multi-gene panel testing among underrepresented patients in limited resource settings.

Communicating risk and the landscape of cancer prevention — an exploratory study that examines perceptions of cancer-related genetic counseling and testing among African Americans and Latinos in the Midwest

African American (AA) and Latino populations are impacted disproportionately by cancer incidence and mortality compared to the general US population. Contributing to these rates are multiple inheritable cancers that impact both men and women. Some of these diseases may be detected through genetic counseling and germline DNA testing; however, AA and Latinos are unaware and have limited knowledge and thus significantly underutilize these services and technologies. Research to detect influencing factors to testing uptake has also been slow due to multiple factors. The research team followed a community-based participatory research (CBPR) approach and worked with a Community Advisory Board composed of cancer survivors and co-survivors to design the exploratory study. Six focus groups were held with a pilot sample of African Americans and Latinos who self-reported to be at-risk for cancer (N = 53). The study was held over a 2-month period where attitudes, perceptions, and beliefs about cancer risk and preference regarding cancer-related genetic counseling and testing risk communication were explored. Themes that emerged included (1) the lack of knowledge about cancer-related genetic counseling and testing; (2) cancer is feared often; (3) cancer-related genetic testing was perceived as something that could help but was also perceived as unnecessary testing that exposed individuals to medical harm; and (4) benefits to test were perceived as favorable for medical personnel but not for the patient. Implications of the study provide a unique lens to explore how lived experiences among AA and Latinos may inform strategic risk communication about cancer-related genetic counseling and testing and help advance cancer health equity. Participants viewed cancer genetic testing as important cancer risk prevention strategies. Identification of perceptions of cancer risk and cancer-related genetic counseling and testing in collaboration with members of the community is needed to bolster communication efforts among these populations.

Routine hereditary cancer risk assessment in a safety net hospital: An opportunity to improve family history-based testing (195)

<b>Objectives:</b> Despite established National Comprehensive Cancer Network (NCCN) guidelines for hereditary cancer testing, underrepresented minorities (URM) are under-tested. While testing rates have improved for those with personal cancer diagnoses, they remain low for those with pertinent family history. The standardization of hereditary cancer risk assessment (HCRA) at routine health visits in unaffected individuals is critical to cancer prevention. We sought to evaluate the impact of implementing an original HCRA tool in women's health clinics, along with a genetic testing program supported by a community health worker (CHW), in a large safety-net hospital serving >70% URM patients. <b>Methods:</b> Prior to January 2020, hereditary cancer risk screening, counseling, and testing were performed by routine clinical practice and by a single certified genetic counselor (CGC), respectively, at our institution. In January 2020, a pilot program was initiated in women's health clinics, in which original NCCN-based questionnaires were administered to women, and a CHW, working alongside a CGC and gynecologic oncologist, scored questionnaires and arranged indicated genetic counseling and testing. Patients were notified of results by a provider via telephone and offered post-test counseling with a CGC via telehealth. Data were collected prospectively. <b>Results:</b> In 18 months prior to the initiation of the HCRA program, 68 patients underwent genetic testing via a CGC, 51 (75%) with a personal history of cancer, and 17 (25%) of whom were unaffected but with pertinent positive family history. Pathogenic variants were identified in 16 (24%), of whom 13 (81%) had a personal cancer history. In the first 18 months of the CHW-based program, 73 patients were tested in the routine fashion by a CGC, 44 (60%) with personal cancer history and 29 (40%) based on family history. Pathogenic variants were identified in 16 (22%), 11 (69%) of whom had a personal cancer history. With the CHW-based program, an additional 88 patients have been tested: 28 (32%) based on personal history and 60 (68%) based on family history. Pathogenic variants were identified in ten patients (11%), one (10%) of whom had a personal cancer history. Since the inception of this program, there has been a 140% increase in tests completed and a doubling in testing performed for unaffected patients (25% vs 55%). This increased the pathogenic variant detection rate in unaffected women from 3% to 54%. <b>Conclusions:</b> This pilot program demonstrates the feasibility of a CHW-guided program, using self-administered HCRA questionnaires and telehealth-based testing, in primarily URM patients. This program improved the detection of unaffected high-risk women based on family history and preferentially increased the volume of genetic tests performed for this indication. Programs of this type may improve family history-based genetic testing in a URM population to implement cancer prevention strategies.

Association between Health Insurance Type and Genetic Testing and/or Counseling for Breast and Ovarian Cancer.

As genetic testing becomes increasingly incorporated into clinical practice to aid in both the diagnosis and risk assessment of genetic diseases, patients benefit from genetic counseling to support their understanding of test results either before and/or after genetic testing. Therefore, access to genetic testing and counseling is imperative for patient care. It is well established that health insurance coverage is a major determinant of access to health care in the United States as individuals without insurance are less likely to have a regular source of health care than their insured counterparts. Different health insurance plans and benefits also influence patients’ access to health care. Data on the association of health insurance and the uptake of genetic testing and/or counseling for cancer risk are limited. Using data from the National Health Interview Survey, we examined the uptake of genetic testing and/or counseling for breast/ovarian cancer risk by health insurance type. We found that only a small proportion of women undergo genetic testing and/or counseling for breast/ovarian cancer risk (2.3%), even among subgroups of women at risk due to family or personal history (6.5%). Women with health insurance were more likely to undergo genetic testing and/or counseling for breast/ovarian cancer risk, particularly those with military and private insurance plans, than those without health insurance after adjusting for various demographic, socioeconomic, and health risk covariates. Further investigations are needed to examine potential disparities in access and health inequities.

Long-Term Adaptation Among Adolescent and Young Adult Children to Familial Cancer Risk.

It is important to examine adolescent and young adult (AYA) children's long-term psychosocial and behavioral adaptation to disclosure of maternal BRCA-positive carrier status (BRCA+) to inform approaches for familial cancer risk communication, education, and counseling. Mothers underwent BRCA genetic testing 1 to 5 years earlier. Group differences in AYAs' self-reported outcomes were analyzed by maternal health and carrier status, and child age and sex. A total of N = 272 AYAs were enrolled: 76.1% of their mothers were breast or ovarian cancer survivors and 17.3% were BRCA+. AYAs' cancer risk behavior (tobacco and alcohol use, physical activity) and psychologic distress levels did not vary by maternal status. In bivariate analyses, AYAs of cancer-surviving mothers believed themselves to be at greater risk for, and were more knowledgeable about, cancer than AYAs of mothers without cancer. AYAs of BRCA+ mothers were more concerned about cancer, held stronger beliefs about genetic risk, and placed a higher value on learning about genetics. In adjusted models, maternal cancer history (not BRCA+) remained associated with AYAs' greater perceptions of cancer risk (P = .002), and knowledge about cancer (P = .03) and its causes (P = .002). Disclosing maternal BRCA+ status did not influence children's lifestyle behavior or adversely affect quality of life long term. AYAs of BRCA+ mothers were more aware of and interested in genetic risk information. Such families may benefit from support to promote open communication about genetic testing choices.

Genetic Testing and/or Counseling for Colorectal Cancer by Health Insurance Type.

Genetic testing is increasingly used in clinical practice to assist with the diagnosis of genetic diseases and/or provide information about disease risk, and genetic counseling supports patient understanding of test results before and/or after genetic testing. Therefore, access to genetic testing and counseling is important for patient care. Health insurance coverage is a major determinant of access to health care in the United States. Uninsured individuals are less likely to have a regular source of health care than their insured counterparts. Different health insurance types and benefits also influence access to health care. Data on the association of health insurance and uptake of genetic testing and/or counseling for cancer risk are limited. Using data from the National Health Interview Survey, we examined the uptake of genetic testing and/or counseling for colorectal cancer (CRC) risk by health insurance type. We found that only a small proportion of individuals undergo genetic testing and/or counseling for CRC risk (0.8%), even among subgroups of individuals at risk due to family or personal history (3.7%). Insured individuals were more likely to undergo genetic testing and/or counseling for CRC risk, particularly those with Military and Private insurance plans, after adjusting for various demographic, socioeconomic, and health risk covariates. Further investigations are warranted to examine potential disparities in access and health inequities.

Pilot study of a culturally sensitive intervention to promote genetic counseling for breast cancer risk

BackgroundDespite the benefits of genetic counseling and testing, uptake of cancer genetic services is generally low and Black/African American (Black) women are substantially less likely to receive genetic services than non-Hispanic White women. Our team developed a culturally sensitive, narrative decision aid video to promote uptake of genetic counseling among Black women at risk for a hereditary breast cancer syndrome that can be incorporated in conjunction with population-based cancer risk assessment in a clinical setting. We report here a pilot study to demonstrate changes in intention to access genetic counseling and intervention satisfaction.MethodsBlack women who were personally unaffected by breast cancer and were recommended for genetic counseling based on family history screening in a mammography center were recruited at the time of the mammogram. A prospective, pre-post survey study design, guided by theoretical constructs, was used to evaluate baseline and immediate post-intervention psychosocial factors, including intention to participate in genetic counseling and intervention satisfaction.ResultsPilot recruitment goals were met (n = 30). Pre-intervention, 50% of participants indicated that they were extremely likely to make a genetic counseling appointment, compared with 70% post-intervention (p = 0.05). After watching the intervention, 50% of participants indicated that the video changed their mind regarding genetic counseling.ConclusionsThis study demonstrated cultural satisfaction with a decision aid intervention designed to motivate Black women with hereditary breast cancer risk to attend a genetic counseling appointment. Our study showed that intention may be a specific and key construct to target in interventions designed to support decision-making about genetic services. Study results informed the design of a subsequent large scale, randomized implementation study.Trial registrationTrial registration: Clinicaltrials.govNCT04082117.Registered September 9, 2019.Retrospectively registered.

Telephone versus in-person genetic counseling for hereditary cancer risk: Patient predictors of differential outcomes

Purpose Telegenetics has become the predominant mode of cancer genetic counseling during the COVID-19 pandemic. We sought to identify potential patient-level contraindicators for telegenetic genetic counseling. Methods We analyzed post-counseling (pre-result disclosure) follow-up data from a randomized noninferiority trial of a telephone genetic counseling versus usual care genetic counseling. Among 669 randomized participants, 600 completed pre-test counseling and 568 completed a 2-week follow-up assessment before receiving test results. In this analysis, we focused on genetic counseling outcomes (knowledge, decisional conflict, and distress). In multivariate models controlling for bivariate predictors of these outcomes, we tested our a priori hypotheses that pre-counseling numeracy, perceived stress, and race/ethnicity would moderate the outcomes of telephone genetic counseling versus usual care. Results Only numeracy significantly moderated associations between mode of genetic counseling and outcomes. Higher numeracy was associated with higher post-counseling knowledge following telephone genetic counseling (p < 0.001), but not usual care (p = 0.450). Higher numeracy was also associated with lower distress following telephone genetic counseling (p = 0.009) but not usual care (p = 0.16). Neither perceived stress nor race/ethnicity exhibited differential impacts on telephone genetic counseling versus usual care (ps > 0.20). Conclusion Although high numeracy was associated with higher levels of knowledge following telegenetic counseling, we did not identify any clinically significant patient-level contraindicators for telegenetic counseling. These results lend further confidence to the broad use of telegenetics.

Recommendations for a More Organized and Effective Approach to the Early Detection of Pancreatic Cancer From the PRECEDE (Pancreatic Cancer Early Detection) Consortium

Recommendations for a More Organized and Effective Approach to the Early Detection of Pancreatic Cancer From the PRECEDE (Pancreatic Cancer Early Detection) Consortium

Disparities in pan-cancer patients undergoing germline cancer risk assessment by self-reported race/ethnicity and ancestry.

10508 Background: Disparities in access to germline testing for cancer patients (pts) have been demonstrated; however, disparities in post-testing care are unknown. We sought to evaluate germline findings and subsequent genetic counseling/care in cancer pts undergoing tumor-germline sequencing to explore differences by self-reported ancestry. Methods: Pan-cancer pts were prospectively consented to tumor-normal sequencing via a custom NGS panel (MSK-IMPACT) from 1/2015-12/2019 inclusive of germline analysis up to 88 genes. Germline analysis was performed as a research non-billable test in 97.5% of cases. Referral to clinical genetics service (CGS) was recommended for all pts with a new positive (likely pathogenic/pathogenic) germline variant (PV). Ancestry was defined using self-reported Federal definitions of race/ethnicity and designations of Ashkenazi Jewish (AJ) ancestry. Pts were categorized into mutually exclusive groups: AJ, White, Non-White (Asian, Black/African American, Hispanic, Other), and unknown. All pts self-identifying as Hispanic were classified as such, regardless of race. Abstracted data on germline findings and downstream CGS follow-up were compared across groups using non-parametric statistical tests. Results: Among the 15,775 pts in this cohort (59.6% White, 15.7% AJ, 20.5% Non-White [6.9% Asian, 6.8% Black, 6.7% Hispanic, 0.1% Other], and 4.2% unknown), 2663 (17%) had a PV. AJ pts had the highest rates of PV (n = 683, 27.6%), and Non-White pts had a lower proportion of PV (n = 433, 13.6%) compared to Whites (n = 1451, 15.5%), p &lt; 0.01, with differences mostly due to increased prevalence of moderate/low penetrance variants in White and AJ pts . These findings were consistent across multiple tumor types. Prior knowledge of the PV (424/2663, 16%) was more common in Non-White (19.9%) and AJ (19.2%) than White pts (13.4%), p &lt; 0.01. Among 2239 pts with new PV, all were referred to CGS, and 1652 (73.8%) pts were seen. Non-White pts had lower rates of completing visits (67.7%) than White (73.7%) and AJ pts (78.8%), p &lt; 0.01, with the lowest rates occurring in Black (63%) and Hispanic (68.1%) pts. All pts without a visit (n = 587) received a close out letter including 139 pts (6.2% of pts with new PV) who had no documentation of receipt of results in the medical record. Higher rates of non-disclosure were observed in Non-White (6.7%) compared to White (5.4%) and AJ (3.4%) pts with new PV, p = 0.032; non-disclosure did not vary by gene penetrance. There was a non-significant trend towards lower rates of cascade testing at CGS in Asian and Black pts with ongoing analysis. Conclusions: Even when traditional barriers to genetic testing were minimized, Non-White pts were less likely to receive recommended cancer genetics follow-up for subsequent cancer risk counseling, with potential implications for oncological care, cancer risk reduction, and at-risk family members.

Abstract OT-20-01: Genetic testing for all breast cancer patients (get facts)

Abstract Background: There is evidence that increases in germline cancer genetic testing result in higher rates of contralateral prophylactic mastectomy (CPM) in newly diagnosed breast cancer (BC) patients, even among those with negative results. Unlike carriers of BRCA pathogenic variants (PV), the risks of contralateral breast cancer (CBC) and benefits of CPM for women with PV in moderate penetrance genes are not well studied. There is a critical need to determine how to best counsel BC patients about their personal CBC risk and surgical decisions. Trial design: Newly diagnosed BC patients are randomized 1:1 to quantitative or standard post-genetic test cancer risk counseling methods by genetic counselors. Quantitative counseling includes personalized CBC risk estimates. For patients with a PV in a BC risk gene, CBC risk estimates are calculated via the “ASK2ME” decision tool (https://ask2me.org/). For those without a BC-associated PV, CBC risk estimates are calculated via a validated model “CBCRisk” (https://cbc-predictor-utd.shinyapps.io/CBCRisk/).Standard counseling does not typically include specific CBC risk estimates.Eligibility criteria: All patients over 18 with newly diagnosed invasive or in situ unilateral BC considering genetic testing at Dana-Farber/Brigham and Women’s Cancer Center are eligible. Exclusion criteria include a diagnosis of previous BC, metastatic or bilateral BC, hematologic malignancy, prior or active other malignancy, prior multi-gene panel testing, known medical or surgical contraindication to surgery and/or CPM.Specific aims: The primary aims are to 1) compare changes in patients’ personal CBC risk assessment before/after quantitative versus standard counseling; 2) determine changes in patients’ propensity to choose CPM before/after quantitative versus standard counseling. The secondary aims are to: 1) compare CPM rates; 2) determine concordance between patient and surgeon assessment of CBC risk; 3) evaluate patient genetic testing satisfaction via the Genetic Testing Satisfaction Survey administered post-counseling; 4) measure patient anxiety via the PROMIS Anxiety Survey administered pre- and post-counseling, at 6 months and 2 years; and 5) measure patient decisional regret for both undergoing genetic testing and their surgery choices at 6 months and 2 years; all by quantitative versus standard counseling arms. Statistical methods: For aim 1, the difference between patients’ reported personal CBC risk and true risk before and after counseling will be determined. True risk will be based on the ASK2ME/CBCRisk estimates. We hypothesize that the difference between the true and estimated risk will be smaller post-counseling, and smaller in the quantitative counseling versus standard arm. Assuming an expected difference of 5% and expected standard deviation of 20%, 199 patients are needed for each arm to achieve 80% power and type I error of 5% (based on a two-sample t-test). For aim 2, to determine propensity to undergo CPM, patient responses will be assigned a numeric value: Very Unlikely (1), Somewhat unlikely (2), Unsure (3), Somewhat likely (4), Very likely (5). For each patient we will then calculate the difference in scores before/after counseling. Our hypothesis is that differences will be greater in the quantitative arm. Assuming an expected difference of 0.8 and expected standard deviation of 3, 175 patients are needed for each arm to achieve 80% power and type I error rate of 5% (based on a two-sample t-test). Accrual: Recruitment began on June 8, 2020; there are currently 9 of the target 450 patients enrolled. Funding Support: Sponsored Research Agreement with Myriad Laboratories, Inc. and a Brigham and Women’s Hospital Department of Surgery Robert T. Osteen Junior Fellowship Award. PI: Anna Weiss, aweiss5@bwh.harvard.edu, @DrAnnaWeiss Citation Format: Anna Weiss, Danielle Braun, Jill Stopfer, Daniel Desantis, Meaghan Dwan, Dillon Davis, Anjali Jha, Laura Dominici, Shoshana Rosenberg, Tari A. King, Elizabeth A Mittendorf, Mehra Golshan, Huma Q Rana, Judy E Garber. Genetic testing for all breast cancer patients (get facts) [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr OT-20-01.

Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients.

BackgroundLittle is known about the psychological outcomes of germline multigene panel testing, particularly among diverse patients and those with moderate‐risk pathogenic variants (PVs).MethodsStudy participants (N = 1264) were counseled and tested with a 25‐ or 28‐gene panel and completed a 3‐month postresult survey including the Multidimensional Impact of Cancer Risk Assessment (MICRA).ResultsThe mean age was 52 years, 80% were female, and 70% had cancer; 45% were non‐Hispanic White, 37% were Hispanic, 10% were Asian, 3% were Black, and 5% had another race/ethnicity. Approximately 28% had a high school education or less, and 23% were non–English‐speaking. The genetic test results were as follows: 7% had a high‐risk PV, 6% had a moderate‐risk PV, 35% had a variant of uncertain significance (VUS), and 52% were negative. Most participants (92%) had a total MICRA score ≤ 38, which corresponded to a mean response of “never,” “rarely,” or only “sometimes” reacting negatively to results. A multivariate analysis found that mean total MICRA scores were significantly higher (more uncertainty/distress) among high‐ and moderate‐risk PV carriers (29.7 and 24.8, respectively) than those with a VUS or negative results (17.4 and 16.1, respectively). Having cancer or less education was associated with a significantly higher total MICRA score; race/ethnicity was not associated with the total MICRA score. High‐ and moderate‐risk PV carriers did not differ significantly from one another in the total MICRA score, uncertainty, distress, or positive experiences.ConclusionsIn a diverse population undergoing genetic counseling and multigene panel testing for hereditary cancer risk, the psychological response corresponded to test results and showed low distress and uncertainty. Further studies are needed to assess patient understanding and subsequent cancer screening among patients from diverse backgrounds.Lay Summary Multigene panel tests for hereditary cancer have become widespread despite concerns about adverse psychological reactions among carriers of moderate‐risk pathogenic variants (mutations) and among carriers of variants of uncertain significance.This large study of an ethnically and economically diverse cohort of patients undergoing panel testing found that 92% “never,” “rarely,” or only “sometimes” reacted negatively to results.Somewhat higher uncertainty and distress were identified among carriers of high‐ and moderate‐risk pathogenic variants, and lower levels were identified among those with a variant of uncertain significance or a negative result.Although the psychological response corresponded to risk, reactions to testing were favorable, regardless of results.

Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling.

The role of genetic predisposition in male breast cancer (MBC) patients who test negative for a BRCA mutation is unclear. The aim of this study is to define the association between MBC and family history of breast cancer in patients without mutations in BRCA1 or BRCA2. We conducted an unmatched case-control study with men who received commercial testing for germline mutations in cancer susceptibility genes, including 3,647 MBC cases who tested negative for deleterious mutations in BRCA1/BRCA2, and 4,269 men with a personal history of colorectal cancer who tested negative for mutations in DNA mismatch repair genes to serve as controls. Associations between family history of breast cancer and MBC were estimated using unconditional multivariable logistic regression with adjustment for age, race/ethnicity and year of testing. Breast cancer in a first- or second-degree relative was associated with a four-fold increased odds of MBC (OR 4.7; 95% CI 4.1, 5.3). Associations with MBC were strongest for family history of breast cancer in 2 or more first-degree relatives (FDR) (OR 7.8; 95% CI 5.2, 11.6), for probands and FDR diagnosed at age < 45years (OR 6.9; 95% CI 3.9, 12.4), and for family history of MBC (OR 17.9; 95% CI 7.6, 42.1). Findings were confirmed in a sensitivity analysis of MBC cases who tested negative on a 25-gene pan-cancer panel. MBC patients without mutations in BRCA1/2 have significantly higher odds of a family history of breast cancer, suggesting the existence of unidentified MBC susceptibility alleles.

Hereditary Cancer Genetic Risk Assessment, Testing, and Counseling: A Nurse Practitioner–Led Program in a Community Setting

The demand for hereditary cancer genetic risk assessment, testing, and counseling is growing. Nurse practitioners (NPs) can fill the gap to provide comprehensive genetic care, particularly in rural communities. The focus of this article is the role of NPs in providing hereditary cancer genetic risk assessment, testing, and counseling services to meet the needs of rural communities. The authors used the logic model to implement an NP-led hereditary cancer risk assessment, testing, and counseling program in a West Texas oncology clinic.

Abstract B057: Promoting genetic counseling among African American women with hereditary risk for breast cancer

Abstract Background: Breast cancer mortality is substantially higher in the U.S. for African American (AA) women compared to their white counterparts. Increasing the uptake of genetic counseling among AA women identified with increased breast cancer risk in Federally Qualified Health Centers (FQHC) is a key step in developing a successful approach to breast cancer disparities. However, studies show that women of color are less likely to receive genetic counseling for breast cancer risk. Our research group developed a multimedia culturally tailored educational video, informed by multiple qualitative methods, to improve uptake of genetic counseling among underserved AA women with increased breast cancer risk. We are conducting a pilot study to demonstrate the feasibility of incorporating the intervention with cancer genetic risk assessment in a mammography clinic. Methods: AA women will be recruited at the University of Illinois Mammography Center. Per current standard of care, all women who present for a mammogram complete a cancer genetic risk assessment (CGRA) as part of clinic intake. Women recommended for genetic counseling by the assessment tool will be invited to participate in this study. Participation includes: a pre-survey, viewing the educational video, and a post-survey. Pre- and post survey questions will capture data on the following constructs: knowledge, attitudes, normative beliefs, motivation, perceived social norms, intention to engage in genetic counseling, efficacy beliefs, skills, environmental constraints and opinions on video. Genetic counseling attendance will be monitored via electronic medical record. Thirty participants will be enrolled. Results: Preliminary results will be presented at the meeting. Conclusion: Culturally tailored health communication tools have shown to increase positive health behaviors. It is expected that the culturally tailored educational intervention will increase knowledge, motivation and intention to attend genetic counseling. Citation Format: Vida Henderson, Delawnia Comer-Hagans, Vickii Coffey, Giesela Grumbach, Jennifer Newsome, Kent Hoskins. Promoting genetic counseling among African American women with hereditary risk for breast cancer [abstract]. In: Proceedings of the Twelfth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2019 Sep 20-23; San Francisco, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(6 Suppl_2):Abstract nr B057.

Unanswered Questions: Hereditary breast and gynecological cancer risk assessment in transgender adolescents and young adults

Transgender (TG) individuals have higher rates of mortality associated with cancer diagnoses, in part due to avoidance of gender-assigned cancer screenings resulting in later stages at diagnosis. Knowledge about the risks of breast or gynecological cancer in TG and nonbinary (NB) persons receiving gender-affirming hormone therapy is limited. Even less information exists regarding the subset of individuals with genetic predisposition for these malignancies. We performed a retrospective literature review of studies from the last 15years on breast cancer rates and identified risks in TG persons. An accumulating body of data on breast cancer incidence in TG persons suggests higher than previously believed rates of breast cancer in TG women compared with cisgender men and risk correlating with duration of hormone use. Few studies have examined other cancer risks in TG populations. To date, only three publications address the association with BRCA1/2 mutation presence and breast cancer incidence in TG persons. Meanwhile, there is growing awareness and social acceptance of TG/NB identities coupled with recognition of gender dysphoria at increasingly earlier ages. No information directly addressing cancer risk counseling in TG/NB adolescents and young adults with a family history of cancer or hereditary cancer syndrome exists. Whether the presence of a known genetic predisposition or strong family cancer history may affect cancer risk in these populations is unknown, leading to significant gaps in clinicians' ability to accurately and appropriately estimate cancer risks and counsel those with genetic predisposition on the risks/benefits associated with surgical options and the initiation, duration, and dosing of gender-affirming hormone therapies. A series of three cases illustrates the utility of cancer risk assessment and genetic testing in TG/NB adolescents and young adults, and the unique challenges and unanswered questions that are encountered in the process.

Pharmacist intervention in colorectal cancer screening initiative

ObjectivesTo assess the novel approach of using the community pharmacist as the primary health care team member to facilitate colorectal cancer (CRC) risk counseling and screening in socioeconomically disadvantaged populations. SettingA collaborative effort between the UConn Health Colon Cancer Prevention Program and UConn School of Pharmacy in conjunction with large independent chain pharmacies (medium to medium-high volume) located in metropolitan areas of Connecticut, including Hartford, Bridgeport, New Haven, and Stamford. Pharmacies located in hospitals, across the street from a large physician practice, or within the community. Practice descriptionThe study involved 2 phases. The first phase involved education and training for community pharmacists regarding counseling approaches for patients on the topic of CRC. The second phase of the study involved patient recruitment and counseling with subsequent fecal immunohistochemical testing (FIT). Practice innovationA community pharmacist provided face-to-face counseling on CRC risk factor reduction and provided CRC screening to patients who were without insurance or underinsured. No CRC screening or education program existed beforehand. EvaluationA target sample size of 60 participants was needed with a type 1 error rate of 5% and a power of 80%. Exploration of variables using multivariate logistic regression model included any variable with a univariate P < 0.2. Multivariate P values < 0.05 were considered independent predictors. ResultsAfter approaching 312 consumers, 16 of them consented to the study. The majority of participants (88%) were African American or Latino, and 69% were currently unemployed. Eight participants agreed to complete FIT, and 88% of participants completed FIT correctly. Only 1 positive FIT result was observed, but a subsequent colonoscopy was negative. Of the 12 questions that assessed baseline CRC knowledge in the initial survey, 16 participants answered an average of 2.6 (range, 0–6, SD, 1.6) questions incorrectly. Only 4 participants completed the follow-up survey of CRC knowledge and program satisfaction; thus, exploration of variables was not conducted. Patients indicated high satisfaction with the program of education and FIT dispensing. ConclusionThis study faced difficulty in recruiting pharmacists to participate, with the main reason being lack of compensation and disruption to workflow. Patient participation in the trial was also low because of a lack of time or interest in participation. Of the patients who did participate, the level of satisfaction in having the pharmacist speak to them about CRC screening was high. This service is an excellent example of how the pharmacist can provide a more accessible, convenient, and responsive approach to patients’ needs while improving health equity. Future studies that employ a revenue model to build the infrastructure and capacity necessary to offer this service efficiently and consistently are needed.